The use of race, ethnicity, and ancestry in genomics research National Academy of Sciences March 11, 2022

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The use of race, ethnicity, and ancestry in genomics research National Academy of Sciences March 11, 2022
The use of race, ethnicity, and ancestry in genomics
research
National Academy of Sciences
March 11, 2022
Dr. Joseph L. Graves Jr.*
Professor of Biological Sciences
Department of Biology
North Carolina A&T State University & UNC Greensboro
*Fellow, American Association for the Advancement of
Science: Section G: Biological Sciences
The use of race, ethnicity, and ancestry in genomics research National Academy of Sciences March 11, 2022
The use of race, ethnicity, and ancestry in genomics research National Academy of Sciences March 11, 2022
References
•   Graves JL. Kearney M. Barabino G. Malcolm S. Inequality in science and
    the case for a new agenda, Proc. National Acad. Sciences USA,
    Perspectives on Racial and Social Justice, 2022; doi:
    10.1073/pnas2117831119.
•   Graves JL. A Voice in the Wilderness: A Pioneering Biologist Explains How
    Evolution Can Help Us Solve Our Biggest Problems (NY: Basic Books), 2022
    (In Press).
•   Graves JL, Out of Africa: Where Faith, Race, and Science Collide, in Critical
    Approaches to Science and Religion (Myrna S., Rahgeb A. and Keel T. eds),
    Columbia University Press, 2022 (in press).
•   Graves JL. Genetics and American Science, for Kneeland T. (Ed.). The
    Routledge History of American Science, (London: Routledge Publishing),
    2022 (in press).
•   Graves JL and Goodman A. Racism Not, Race: Answers to Frequently Asked
    Questions, Columbia University Press, 2022, (December 7, 2021;
    https://cup.columbia.edu/book/racism-not-race/9780231200660).
The use of race, ethnicity, and ancestry in genomics research National Academy of Sciences March 11, 2022
Race is not a scientific concept…
•   This claim has become a platitude among humanities and social science
    scholars. It fails because it conflates two different concepts:
•   Biological Race Concept
•   Morphology (phenotype)
•   Geographical location
•   Population based (frequency of genes)
•   Cladistic race (unique evolutionary lineage)
•   Socially Constructed/Defined Race: Arbitrarily utilizes aspects of
    morphology, geography, culture, language, religion, etc. in the service
    of a social dominance hierarchy.
•   Merrill 2017: Introduction to Epidemiology 7th Ed. “Race is a socially
    constructed variable based on the idea that some human populations are
    distinct from others according to external physical characteristics or
    places of origin.”
The use of race, ethnicity, and ancestry in genomics research National Academy of Sciences March 11, 2022
Carolus Linnaeus - 1735
                   •   Introduced binomial classification system for
                       organisms in Systema Naturae (1735.) In the 10th
                       edition of this work (1758) he described four sub-
                       species of humans: Homo sapiens americanus, the
                       Americas; Homo sapiens europaeus, Europeans;
                       Homo sapiens asiaticus, Asians; and Homo sapiens
                       afer, Africans.
                   •   He did not explain how or why these groups were
                       different. He relied on morphological/behavioral
                       features: Europeans are gentle, optimistic and
                       inventive, while Asians are stiff and greedy.
                   •   Linnaeus never left Europe; thus his judgments
                       were based on information he received from
                       traveler’s reports.
The use of race, ethnicity, and ancestry in genomics research National Academy of Sciences March 11, 2022
Four Horsemen of American Polygeny

•   The major figures were Samuel G. Morton, Josiah Nott, George R. Gliddon,
    Charles Pickering, and Louis Agassiz advocated forms of pre-Adamism, or
    polygenism, for anthropological and archaeological reasons.
•   Agassiz was the chief theorist (“zones of creation.”)
•   Morton was the chief empiricist (craniometry measurements.)
•   Nott (South Carolina, physician) and Gliddon (son of English businessman)
    were its chief propagandists (Types of Mankind, 1854; Indigenous Races of
    the Earth in 1857.)
•   Nott was acclaimed throughout the south for his lectures on “niggerology.”
The use of race, ethnicity, and ancestry in genomics research National Academy of Sciences March 11, 2022
19th century
 naturalists
•   Darwin described what I call
    “the racial multiplication
    problem.”
•   2 – 63 races named
    depending upon the
    criteria.
•   He reasoned that these
    physical differences could
    not be of great importance
    otherwise NS would have
    eliminated them
•   The Descent of Man and
    Selection in Relation to Sex
    1871.
The use of race, ethnicity, and ancestry in genomics research National Academy of Sciences March 11, 2022
UNESCO Race Statements 1950
•   July 18, 1950, The New York Times front page article: “No
    Scientific Basis for Race Bias Found by World Panel of Experts.”
•   They were reporting of the United Nations Educational, Scientific,
    and Cultural Organization (UNESCO) statement on race.
•   “Racial doctrine is the outcome of a fundamentally antirational
    system of thought and is in glaring conflict with the whole
    humanist tradition of our civilization. It sets at nought everything
    that UNESCO stands for and endeavors to defend.”
                                                                           Dr. Anthony Hazard
•   Prior to the war the Institute for International Cooperation           Santa Clara University
    attempted to draft a similar document, as to not offend Hitler.
•   The 1950 UNESCO statement was immediately denounced by
    Hans Gunther, Eugen Fischer, and Franz Lenz (Nazi race scientists
    who had escaped prosecution.)
•   A definitive history of the UNESCO race documents is: Postwar
    Anti-Racism: The United States, UNESCO, and “Race”, 1945—
    1968; Dr. Anthony Q. Hazard, who was my student in this class in
    1997.
UNESCO Statements 1951
•   The 1950 committee had a total of 21 drafters and reviewers,
    none were from former Axis countries, 3 from former colonies,
    and 1 African American (historian E. Franklin Frazier, Duke U.)
•   Several were humanists (historian, Frazier; sociologist, Gunnar
    Myrdal; psychologist, Otto Klinebert).
•   The 1951 committee was composed of 14 anthropologists and
    geneticists from the USA and Europe (Dahlberg, Dunn,
    Montagu, Dobzhansky, and Huxley participated on both                Fritz Lenz, Nazi race
    committees).                                                        scientist.

•   The 1951 committee accepted the notion that humans can be
    arranged within biological races, but that not all human groups
    could be unambiguously fitted into racial classification schemes.
•   Fritz Lenz stated that the 1950 UNESCO document ran against
    the “science of eugenics” and that the “psychical hereditary
    differences in between races were more important than the
    physical differences.” He still maintained that the Jews were a
    race distinguished by the former.
https://magazine.scienceforthepeople.org/lewontin-special-issue/richard-lewontin-
race-science/
Geographical races

•   With the Neo-Darwinian synthesis (unification of NS with Mendelian
    genetics), evolutionary biologists questioned the origin, significance, and
    maintenance of geographical variation.
•   Ernst Mayr noted that the term subspecies (equivalent to geographical race)
    had come into common usage in the 19 th century replacing the notion of the
    variety.
•   “The concept of subspecies is fallacious. Species are not composites of
    uniform subtypes—subspecies—but consist of an almost infinite number of
    local populations, each in turn (in sexual species) consisting of genetically
    different individuals. The difficulties of the subspecies concept are
    intensified if one considers the subspecies not merely as a practical device of
    the taxonomist, but also as a ‘unit of evolution’. The better the geographical
    variation of the species is known, the more difficult it becomes to delimit
    subspecies and the more obvious it becomes that many such delimitations
    are quite arbitrary.”

•   E. Mayr, Populations, Species, and Evolution, 1974, pg. 210.
The definition of the term species in sexually reproducing forms began to shift from
 a designation of a kind of organism to one of a population within which there has
been sufficient continuity of interbreeding so that there is intergradation of all
characteristics…This is often in spite of such great morphological differences
between inhabitants of remote localities as to suggest different species.

Wright S. Evolution and the Genetics of Populations, Vol. 4: Variability Within and
Among Natural Populations, (U. Chicago Press), 1978.
Isolation by distance
    •   Both the serial founder effect and Reich’s local adaptation with admixture
        models are designed to explain the pattern of human genetic variation
        with geography.

More genetic variation, e.g. alleles means greater heterozygosity. This is because
the HW equilibrium equation can be extended to > 2 alleles.
with 2: p2 + q2 + 2pq = 1.0; with 3: p2 + q2 + r2 + 2pq + 2pr + 2rq = 1.0.
DeGiorgio M, Jakobsson M, Rosenberg NA. Out of Africa: modern human origins special feature:
explaining worldwide patterns of human genetic variation using a coalescent-based serial founder model of
migration outward from Africa. Proc Natl Acad Sci USA. 2009 106(38):16057-62. doi: 10.1073/pnas.0903341106.
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